uromodulin; Tamm-Horsfall urinary glycoprotein; THP (UMOD)
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Function
- most abundant protein in human urine
- function unknown
- may function to bind bacteria through its mannose-containing residues, preventing bacterial colonization of the uroepithelium
- may play a role in regulating the circulating activity of cytokines as it binds to IL-1, IL-2 & TNF with high affinity
Structure
- glycoprotein
- contains 3 EGF-like domains
- contains 1 ZP domain
Compartment
- cell membrane; lipid-anchor, GPI-anchor
- secreted after cleavage into the urine
Alternative splicing
named isoforms=3
Expression
- produced by cells of the ascending loop of Henle & the adjacent distal convoluted tubule of the kidney
- most abundant protein in human urine
Pathology
- uromodulin is the primary constituent of hyaline casts
- defects in UMOD are the cause of:
- defects in UMOD are a cause of glomerulocystic kidney disease with hyperuricemia & isosthenuria
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P07911.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=UMOD
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7369
- ↑ Trudu M, Janas S, Lanzani C et al Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nat Med. 2013 Dec;19(12):1655-60. PMID: https://www.ncbi.nlm.nih.gov/pubmed/24185693 Free PMC Article
Database
- UniProt: http://www.uniprot.org/uniprot/P07911.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=7369
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:7369
- OMIM: https://mirror.omim.org/entry/162000
- OMIM: https://mirror.omim.org/entry/191845
- OMIM: https://mirror.omim.org/entry/603860
- OMIM: https://mirror.omim.org/entry/609886